Detalhe da pesquisa
1.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
3.
Endocrinological manifestations in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 471-477, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401574
4.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet
; 104(4): 749-757, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905398
5.
Senatore cappelli (Triticum turgidum ssp. durum) pasta: a study on the nutritional quality of whole grains and its physical form.
Int J Food Sci Nutr
; 73(4): 451-459, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35016589
6.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
7.
Modifications of taste sensitivity in cancer patients: a method for the evaluations of dysgeusia.
Support Care Cancer
; 28(3): 1173-1181, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31203507
8.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Cytogenet Genome Res
; 157(3): 135-140, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933954
9.
Nitric oxide synthase and VEGF expression in full-term placentas of obese women.
Histochem Cell Biol
; 152(6): 415-422, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31552486
10.
Evaluation of antioxidative and diabetes-preventive properties of an ancient grain, KAMUT® khorasan wheat, in healthy volunteers.
Eur J Nutr
; 58(1): 151-161, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143934
11.
PCSK9 is Expressed in Human Visceral Adipose Tissue and Regulated by Insulin and Cardiac Natriuretic Peptides.
Int J Mol Sci
; 20(2)2019 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30634533
12.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119818
13.
The association between ultrasound-estimated visceral fat deposition and uterine fibroids: an observational study.
Gynecol Endocrinol
; 33(8): 634-637, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332865
14.
Effects of short-term hyperoxia on erythropoietin levels and microcirculation in critically Ill patients: a prospective observational pilot study.
BMC Anesthesiol
; 17(1): 49, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335733
15.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927
16.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556213
17.
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
Am J Med Genet A
; 170(8): 1989-2001, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27196381
18.
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nat Genet
; 39(8): 1007-12, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17603483
19.
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Am J Med Genet A
; 167A(11): 2786-94, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227443
20.
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.
J Sex Med
; 12(6): 1440-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893774